Whole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures

Sulev Kõks; Karin Rallmann; Mari Muldmaa; Jack Price; Abigail L Pfaff; Pille Taba

doi:10.3389/ebm.2024.10401

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Journal article

Open access

Peer reviewed

Whole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures

Sulev Kõks, Karin Rallmann, Mari Muldmaa, Jack Price, Abigail L Pfaff and Pille Taba

Experimental biology and medicine (Maywood, N.J.), Vol.249, 10401

2025

DOI: https://doi.org/10.3389/ebm.2024.10401

PMID: 39844875

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Abstract

Adult

Aged

Biomarkers - blood

Case-Control Studies

Female

Gene Expression Profiling - methods

Humans

Male

Middle Aged

Motor Neuron Disease - blood

Motor Neuron Disease - diagnosis

Motor Neuron Disease - genetics

RNA - blood

RNA - genetics

Transcriptome - genetics

Blood-based biomarkers for motor neuron disease are needed for better diagnosis, progression prediction, and clinical trial monitoring. We used whole blood-derived total RNA and performed whole transcriptome analysis to compare the gene expression profiles in (motor neurone disease) MND patients to the control subjects. We compared 42 MND patients to 42 aged and sex-matched healthy controls and described the whole transcriptome profile characteristic for MND. In addition to the formal differential analysis, we performed functional annotation of the genomics data and identified the molecular pathways that are differentially regulated in MND patients. We identified 12,972 genes differentially expressed in the blood of MND patients compared to age and sex-matched controls. Functional genomic annotation identified activation of the pathways related to neurodegeneration, RNA transcription, RNA splicing and extracellular matrix reorganisation. Blood-based whole transcriptomic analysis can reliably differentiate MND patients from controls and can provide useful information for the clinical management of the disease and clinical trials.

Details

Title: Whole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures
Authors/Creators: Sulev Kõks - Murdoch University, Centre for Molecular Medicine and Innovative Therapeutics
Karin Rallmann - Department of Neurology, Tartu University Hospital, Tartu, Estonia
Mari Muldmaa - Institute of Clinical Medicine, University Tartu, Tartu, Estonia
Jack Price - Perron Institute for Neurological and Translational Science, Perth, WA, Australia
Abigail L Pfaff - Murdoch University, Centre for Molecular Medicine and Innovative Therapeutics
Pille Taba - Tartu University Hospital
Publication Details: Experimental biology and medicine (Maywood, N.J.), Vol.249, 10401
Publisher: Frontiers Media S.A.
Number of pages: 15
Grant note: Multiple Sclerosis Society of Western Australia10.13039/501100020598
The technical support from the Genomics Core Facility of Mudoch University is appreciated.
Identifiers: 991005732476207891
Murdoch Affiliation: Centre for Molecular Medicine and Innovative Therapeutics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.132 Extracellular Matrix & Cell Differentiation; 1.132.2417 Macrophage Migration Inhibitory Factor
Web Of Science research areas: Medicine, Research & Experimental
ESI research areas: Clinical Medicine